《英文文献/摘要翻译》站在时间尽头2012

23、Driver mutation catalogue

　　In 98.6% of all samples, at least one somatic candidate driver mutation or germline predisposition variant was found.
　　所有样本中，有98.6%被发现至少有一个躯体候选驱动突变或种系倾向变异。

　　Of the 34 samples with no identified driver, 18 were NETs of the small intestine.
　　34 个没有明确驱动的样本中，有18个是小肠神经内分泌肿瘤。

　　This probably indicates that small intestine NETs have a distinct set of yet drivers that are not captured in any of the cancer gene resources used and are also not prevalent enough in our relatively small NET cohort to be detected as significant.
　　这可能表明，小肠神经内分泌肿瘤有一套独特的驱动程序，但这种驱动程序没有被任何已被使用的癌症基因来源掌握，而且在我们相对较小的神经内分泌肿瘤队列中也不够普遍，无法被检测为重要信息。

　　Alternatively, NETs could be mainly driven by epigenetic mechanisms that are not detected by WGS.
　　要不然就是，神经内分泌肿瘤主要由表观遗传机制驱动，全基因组测序没有检测到。

　　The number of amplified driver genes varied significantly between cancer types, with highly increased rates per sample in breast cancer, oesophageal cancer, urinary tract and stomach cancers, nearly no amplification drivers in kidney cancer, and none in the mesothelioma cohort.
　　扩增的驱动基因的数量在不同癌症类型之间差异显著，对于乳腺癌、食管癌、尿路癌和胃癌，每个样本的扩增率都显著增加，而在肾癌中几乎没有扩增驱动因子，在间皮瘤队列中也没有。

　　In tumour types with high rates of amplifications, these amplifications are generally found across a broad spectrum of oncogenes, which suggests that there are mutagenic processes active in these tissues that favour amplifications, rather than tissue-specific selection of individual driver genes.
　　对于扩增率高的肿瘤类型，这些扩增通常都在广泛的癌基因频谱中被发现，这表明有利于扩增的致突变过程活跃在这些组织中，而非个别驱动基因对特定组织的选择。

　　AR and EGFR are notable exceptions, with highly selective amplifications in prostate cancer, and in CNS and lung cancers, respectively, in line with previous reports.
　　AR和EGFR是值得注意的例外，在前列腺癌，中枢神经系统癌和肺癌中分别都有高度选择性扩增，与之前的报告一致。

　　Notably, we also found twofold more amplification drivers in samples with WGD events despite amplifications being defined as relative to the average genome ploidy.
　　值得注意的是，我们还在全基因组测序样本发现了多出两倍数目的扩增驱动，尽管扩增被定义为与平均基因组倍性有关。